Variant #0000692450 (NC_000017.10:g.67215774T>A, ABCA5(NM_018672.3):c.*27904A>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.67215774T>A
DNA change (hg38) -
Published as ABCA10(NM_080282.3):c.442A>T (p.I148L)
ISCN -
DB-ID ABCA5_000009
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA5 NM_018672.3 -?/. - c.*27904A>T r.(=) p.(=)
ABCA10 NM_080282.3 -?/. - c.442A>T r.(?) p.(Ile148Leu)